Allele Registry

Canonical Allele Identifier: PA188808

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000163633

RCV000189993

RCV000230256

RCV002053949

RCV003995264

ClinVar Variation:

184386

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg691Cys	CA016553 NM_000548.5:c.2071C>T